Incidental Mutation 'R6364:Ptbp2'
ID 513389
Institutional Source Beutler Lab
Gene Symbol Ptbp2
Ensembl Gene ENSMUSG00000028134
Gene Name polypyrimidine tract binding protein 2
Synonyms brPTB
MMRRC Submission 044514-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6364 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 119512391-119578115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119534091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 23 (N23K)
Ref Sequence ENSEMBL: ENSMUSP00000143325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029780] [ENSMUST00000195902] [ENSMUST00000197833] [ENSMUST00000200097]
AlphaFold Q91Z31
Predicted Effect probably benign
Transcript: ENSMUST00000029780
AA Change: N259K

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000029780
Gene: ENSMUSG00000028134
AA Change: N259K

DomainStartEndE-ValueType
RRM 60 129 3.8e-6 SMART
low complexity region 144 159 N/A INTRINSIC
RRM 182 251 1.22e-4 SMART
low complexity region 285 295 N/A INTRINSIC
RRM 339 408 1.07e-9 SMART
RRM 456 526 1.99e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000195902
AA Change: N23K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143325
Gene: ENSMUSG00000028134
AA Change: N23K

DomainStartEndE-ValueType
Blast:RRM_2 1 48 7e-25 BLAST
PDB:1SJR|A 1 48 3e-27 PDB
low complexity region 49 59 N/A INTRINSIC
Pfam:RRM_1 109 154 1.9e-4 PFAM
Pfam:RRM_6 109 155 1.4e-6 PFAM
Pfam:RRM_5 124 155 2.6e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196203
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196343
Predicted Effect possibly damaging
Transcript: ENSMUST00000197833
AA Change: N259K

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143719
Gene: ENSMUSG00000028134
AA Change: N259K

DomainStartEndE-ValueType
RRM 60 129 1.7e-8 SMART
low complexity region 144 159 N/A INTRINSIC
RRM 182 251 5.2e-7 SMART
low complexity region 285 295 N/A INTRINSIC
PDB:2MJU|A 325 349 4e-7 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199417
Predicted Effect probably benign
Transcript: ENSMUST00000200097
AA Change: N259K

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000143510
Gene: ENSMUSG00000028134
AA Change: N259K

DomainStartEndE-ValueType
RRM 60 129 3.8e-6 SMART
low complexity region 144 159 N/A INTRINSIC
RRM 182 251 1.22e-4 SMART
low complexity region 285 295 N/A INTRINSIC
RRM 339 408 1.07e-9 SMART
RRM 456 525 8.08e-10 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 99% (69/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds to intronic polypyrimidine clusters in pre-mRNA molecules and is implicated in controlling the assembly of other splicing-regulatory proteins. This protein is very similar to the polypyrimidine tract binding protein (PTB) but most of its isoforms are expressed primarily in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null mutation display neonatal lethality with premature neurogenesis and abnormal neural stem cell polarity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 89,869,673 (GRCm39) Y234C possibly damaging Het
Ambra1 C A 2: 91,603,661 (GRCm39) H548Q possibly damaging Het
Ap3d1 T C 10: 80,546,328 (GRCm39) probably null Het
Apol11b A G 15: 77,522,258 (GRCm39) V13A possibly damaging Het
Arhgdib C T 6: 136,909,253 (GRCm39) probably null Het
B3galt1 T A 2: 67,949,016 (GRCm39) S244T probably damaging Het
Bace2 A G 16: 97,214,633 (GRCm39) I274V probably benign Het
Bfsp2 A T 9: 103,325,827 (GRCm39) V272D probably damaging Het
Blm A T 7: 80,144,274 (GRCm39) C782* probably null Het
Cfi G A 3: 129,666,495 (GRCm39) S406N probably benign Het
Chd1l G A 3: 97,494,483 (GRCm39) A399V probably damaging Het
Cic C A 7: 24,972,248 (GRCm39) H660N possibly damaging Het
Cops3 A G 11: 59,726,230 (GRCm39) probably benign Het
Dlec1 G A 9: 118,950,939 (GRCm39) V502I possibly damaging Het
Dync2i1 A T 12: 116,205,352 (GRCm39) D412E probably damaging Het
Epop A G 11: 97,519,513 (GRCm39) S199P probably benign Het
Evi5 G T 5: 107,989,979 (GRCm39) P80Q probably damaging Het
Faf1 T C 4: 109,818,997 (GRCm39) V623A possibly damaging Het
Fam83c T C 2: 155,676,443 (GRCm39) D109G probably damaging Het
Fam83d T C 2: 158,625,179 (GRCm39) probably null Het
Flacc1 G T 1: 58,697,531 (GRCm39) A403D probably damaging Het
Foxn3 T C 12: 99,354,952 (GRCm39) N71D probably benign Het
Gm7298 A G 6: 121,756,402 (GRCm39) R1016G possibly damaging Het
Grin2d T C 7: 45,507,878 (GRCm39) E396G possibly damaging Het
Htra2 C A 6: 83,030,027 (GRCm39) V311F probably damaging Het
Kif6 A T 17: 49,927,651 (GRCm39) T33S probably benign Het
Kmt2c T C 5: 25,514,634 (GRCm39) I3070V probably null Het
Krtap5-2 A T 7: 141,728,800 (GRCm39) C293* probably null Het
Lrp3 T A 7: 34,903,134 (GRCm39) D404V probably benign Het
LTO1 A G 7: 144,473,005 (GRCm39) D105G probably benign Het
Mc2r T G 18: 68,540,607 (GRCm39) I229L probably benign Het
Mtnr1b A G 9: 15,774,300 (GRCm39) M253T possibly damaging Het
Nfat5 A G 8: 108,094,909 (GRCm39) N531S probably benign Het
Niban3 G A 8: 72,051,733 (GRCm39) G23S probably benign Het
Npr2 T A 4: 43,643,622 (GRCm39) I550N probably damaging Het
Npy6r T C 18: 44,409,578 (GRCm39) I333T possibly damaging Het
Nup88 C T 11: 70,838,612 (GRCm39) R468Q probably benign Het
Nup98 G A 7: 101,825,522 (GRCm39) T422I probably damaging Het
Or10aa1 T A 1: 173,869,778 (GRCm39) H87Q possibly damaging Het
Otud4 A G 8: 80,372,970 (GRCm39) N96S probably damaging Het
Paqr6 T C 3: 88,273,265 (GRCm39) F86L probably damaging Het
Ppp4r3b A T 11: 29,138,035 (GRCm39) T90S probably benign Het
Ralgapb G T 2: 158,304,029 (GRCm39) G596V probably damaging Het
Rdm1 G A 11: 101,521,068 (GRCm39) R94H probably benign Het
Rergl A T 6: 139,477,746 (GRCm39) F28I probably damaging Het
Rif1 G T 2: 51,997,681 (GRCm39) S1000I probably damaging Het
Rnf141 C T 7: 110,420,516 (GRCm39) A163T possibly damaging Het
Scaf4 G A 16: 90,057,136 (GRCm39) Q72* probably null Het
Sdk1 G T 5: 141,948,464 (GRCm39) S603I probably benign Het
Sdsl T C 5: 120,598,674 (GRCm39) I147M probably damaging Het
Serpina6 T C 12: 103,620,495 (GRCm39) N85D probably benign Het
Serpinf2 A G 11: 75,327,315 (GRCm39) I204T probably damaging Het
Shank2 A G 7: 143,964,146 (GRCm39) S795G probably benign Het
Simc1 C T 13: 54,672,413 (GRCm39) Q254* probably null Het
Slc30a3 G A 5: 31,246,083 (GRCm39) P216S possibly damaging Het
Smim14 T A 5: 65,610,639 (GRCm39) I53F probably benign Het
Sp3 T C 2: 72,801,285 (GRCm39) T243A probably benign Het
Srpk2 A G 5: 23,745,465 (GRCm39) F164L probably damaging Het
Stard9 T C 2: 120,543,910 (GRCm39) F4403L probably damaging Het
Tbc1d30 T C 10: 121,130,630 (GRCm39) T267A possibly damaging Het
Tgm7 T A 2: 120,926,878 (GRCm39) R424* probably null Het
Tmbim6 T C 15: 99,304,066 (GRCm39) L113P probably damaging Het
Tmcc1 G A 6: 116,020,722 (GRCm39) probably benign Het
Tomm7 A G 5: 24,049,028 (GRCm39) L15P probably damaging Het
Tpcn1 T C 5: 120,691,875 (GRCm39) Y263C probably damaging Het
Trim34b T C 7: 103,985,733 (GRCm39) F456S probably damaging Het
Uox C T 3: 146,330,332 (GRCm39) R163* probably null Het
Vmn2r108 A G 17: 20,691,260 (GRCm39) I421T probably benign Het
Wdr43 A G 17: 71,964,649 (GRCm39) E676G probably damaging Het
Zcchc14 G T 8: 122,331,598 (GRCm39) probably benign Het
Zfp64 C A 2: 168,754,186 (GRCm39) G25V probably damaging Het
Zswim8 C A 14: 20,763,079 (GRCm39) P326H probably damaging Het
Other mutations in Ptbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01294:Ptbp2 APN 3 119,541,461 (GRCm39) missense probably damaging 1.00
IGL01874:Ptbp2 APN 3 119,541,449 (GRCm39) missense probably damaging 1.00
IGL01940:Ptbp2 APN 3 119,519,764 (GRCm39) missense possibly damaging 0.46
IGL02094:Ptbp2 APN 3 119,546,589 (GRCm39) splice site probably benign
IGL02374:Ptbp2 APN 3 119,514,342 (GRCm39) splice site probably benign
IGL02523:Ptbp2 APN 3 119,534,136 (GRCm39) nonsense probably null
IGL02879:Ptbp2 APN 3 119,534,054 (GRCm39) missense probably damaging 1.00
IGL03149:Ptbp2 APN 3 119,514,074 (GRCm39) missense possibly damaging 0.86
IGL03153:Ptbp2 APN 3 119,545,593 (GRCm39) missense probably benign 0.04
IGL03391:Ptbp2 APN 3 119,514,031 (GRCm39) nonsense probably null
R0067:Ptbp2 UTSW 3 119,514,290 (GRCm39) missense probably benign 0.00
R0067:Ptbp2 UTSW 3 119,514,290 (GRCm39) missense probably benign 0.00
R0091:Ptbp2 UTSW 3 119,514,310 (GRCm39) missense probably damaging 1.00
R0396:Ptbp2 UTSW 3 119,517,847 (GRCm39) splice site probably benign
R0511:Ptbp2 UTSW 3 119,514,613 (GRCm39) missense probably benign
R0722:Ptbp2 UTSW 3 119,514,570 (GRCm39) missense possibly damaging 0.72
R1573:Ptbp2 UTSW 3 119,546,754 (GRCm39) missense probably damaging 1.00
R1907:Ptbp2 UTSW 3 119,555,398 (GRCm39) missense probably damaging 1.00
R3606:Ptbp2 UTSW 3 119,541,281 (GRCm39) missense probably damaging 1.00
R5082:Ptbp2 UTSW 3 119,546,613 (GRCm39) missense probably benign 0.06
R5575:Ptbp2 UTSW 3 119,514,438 (GRCm39) missense possibly damaging 0.86
R5575:Ptbp2 UTSW 3 119,514,432 (GRCm39) splice site probably null
R5655:Ptbp2 UTSW 3 119,517,806 (GRCm39) missense probably benign 0.44
R5836:Ptbp2 UTSW 3 119,519,746 (GRCm39) missense probably damaging 0.98
R6290:Ptbp2 UTSW 3 119,517,769 (GRCm39) missense possibly damaging 0.50
R6398:Ptbp2 UTSW 3 119,514,484 (GRCm39) missense probably benign 0.23
R6574:Ptbp2 UTSW 3 119,541,596 (GRCm39) missense probably damaging 0.99
R7037:Ptbp2 UTSW 3 119,545,557 (GRCm39) missense probably damaging 1.00
R7243:Ptbp2 UTSW 3 119,546,761 (GRCm39) missense possibly damaging 0.47
R7718:Ptbp2 UTSW 3 119,514,637 (GRCm39) missense probably null 1.00
R8182:Ptbp2 UTSW 3 119,534,078 (GRCm39) missense probably damaging 0.99
R8443:Ptbp2 UTSW 3 119,541,467 (GRCm39) missense probably damaging 1.00
R9110:Ptbp2 UTSW 3 119,541,258 (GRCm39) missense possibly damaging 0.69
R9164:Ptbp2 UTSW 3 119,546,640 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TTCCCAGAGAGCAATGGAGG -3'
(R):5'- CCATTAGGGCTGACTGTGTG -3'

Sequencing Primer
(F):5'- GAAAGGTGCTACAGACAGTAAAAGTC -3'
(R):5'- CTACTTAAGGAAGGCAGTGAGTG -3'
Posted On 2018-04-27